WO2000049151A3 - POLYMORPHIC HUMAN GABAA RECEPTOR α-6 SUBUNIT - Google Patents

POLYMORPHIC HUMAN GABAA RECEPTOR α-6 SUBUNIT Download PDF

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Publication number
WO2000049151A3
WO2000049151A3 PCT/US2000/004189 US0004189W WO0049151A3 WO 2000049151 A3 WO2000049151 A3 WO 2000049151A3 US 0004189 W US0004189 W US 0004189W WO 0049151 A3 WO0049151 A3 WO 0049151A3
Authority
WO
WIPO (PCT)
Prior art keywords
subunit
polymorphism
human gabaa
gabaa receptor
polymorphic human
Prior art date
Application number
PCT/US2000/004189
Other languages
French (fr)
Other versions
WO2000049151A2 (en
Inventor
David Goldman
Nakao Iwata
Mark Shuckit
Original Assignee
Us Gov Health & Human Serv
David Goldman
Nakao Iwata
Mark Shuckit
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Us Gov Health & Human Serv, David Goldman, Nakao Iwata, Mark Shuckit filed Critical Us Gov Health & Human Serv
Priority to EP00913524A priority Critical patent/EP1153130B1/en
Priority to AT00913524T priority patent/ATE310820T1/en
Priority to DE60024231T priority patent/DE60024231T2/en
Priority to AU34959/00A priority patent/AU3495900A/en
Publication of WO2000049151A2 publication Critical patent/WO2000049151A2/en
Publication of WO2000049151A3 publication Critical patent/WO2000049151A3/en
Priority to US09/930,589 priority patent/US6762294B2/en

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • C07K14/70571—Receptors; Cell surface antigens; Cell surface determinants for neuromediators, e.g. serotonin receptor, dopamine receptor

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Cell Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Immunology (AREA)
  • Toxicology (AREA)
  • Zoology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Biomedical Technology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Neurology (AREA)
  • Genetics & Genomics (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Acyclic And Carbocyclic Compounds In Medicinal Compositions (AREA)

Abstract

Compositions and methods based on a polymorphism in the gene encoding the α6 subunit of the human GABAA neurotransmitter receptor are disclosed. This polymorphism results in the substitution of a serine residue for a proline residue ordinarily present at amino acid position 385 of the α6 polypeptide sequence. Significantly, the polymorphism was associated with decreased sensitivity to ethanol and benzodiazepine drugs.
PCT/US2000/004189 1999-02-19 2000-02-18 POLYMORPHIC HUMAN GABAA RECEPTOR α-6 SUBUNIT WO2000049151A2 (en)

Priority Applications (5)

Application Number Priority Date Filing Date Title
EP00913524A EP1153130B1 (en) 1999-02-19 2000-02-18 Polymorphic human gaba a receptor alpha-6 subunit
AT00913524T ATE310820T1 (en) 1999-02-19 2000-02-18 POLYMORPHISM IN THE HUMAN GABA A RECEPTOR ALPHA 6 SUBUNIT GENE
DE60024231T DE60024231T2 (en) 1999-02-19 2000-02-18 POLYMORPHISM IN GENE FOR THE HUMAN GABA A RECEPTOR ALPHA 6 SUB-UNIT
AU34959/00A AU3495900A (en) 1999-02-19 2000-02-19 Polymorphic human gabaa receptor alpha-6 subunit
US09/930,589 US6762294B2 (en) 1999-02-19 2001-08-15 Polynucleotides encoding polymorphic human GABAA receptor α-6 subunit

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US12081299P 1999-02-19 1999-02-19
US60/120,812 1999-02-19

Related Child Applications (1)

Application Number Title Priority Date Filing Date
US09/930,589 Continuation US6762294B2 (en) 1999-02-19 2001-08-15 Polynucleotides encoding polymorphic human GABAA receptor α-6 subunit

Publications (2)

Publication Number Publication Date
WO2000049151A2 WO2000049151A2 (en) 2000-08-24
WO2000049151A3 true WO2000049151A3 (en) 2000-12-07

Family

ID=22392703

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2000/004189 WO2000049151A2 (en) 1999-02-19 2000-02-18 POLYMORPHIC HUMAN GABAA RECEPTOR α-6 SUBUNIT

Country Status (6)

Country Link
EP (1) EP1153130B1 (en)
AT (1) ATE310820T1 (en)
AU (1) AU3495900A (en)
DE (1) DE60024231T2 (en)
ES (1) ES2254157T3 (en)
WO (1) WO2000049151A2 (en)

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1994013799A1 (en) * 1992-12-10 1994-06-23 Merck Sharp & Dohme Limited Stably transfected cell lines expressing gaba-a receptors
WO1999000389A1 (en) * 1997-06-30 1999-01-07 Ortho Pharmaceutical Corporation 5-[(HETEROARYL)ALKYL]-3-OXO-PYRIDO[1,2-a]BENZIMIDAZOLE-4-CARBOXAMIDE DERIVATIVES USEFUL IN TREATING CENTRAL NERVOUS SYSTEM DISORDERS

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1994013799A1 (en) * 1992-12-10 1994-06-23 Merck Sharp & Dohme Limited Stably transfected cell lines expressing gaba-a receptors
WO1999000389A1 (en) * 1997-06-30 1999-01-07 Ortho Pharmaceutical Corporation 5-[(HETEROARYL)ALKYL]-3-OXO-PYRIDO[1,2-a]BENZIMIDAZOLE-4-CARBOXAMIDE DERIVATIVES USEFUL IN TREATING CENTRAL NERVOUS SYSTEM DISORDERS

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
HADINGHAM K ET AL: "Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors", MOL PHARMACOL., vol. 49, no. 2, February 1996 (1996-02-01), pages 253 - 259, XP000929988 *
IWATA N ET AL: "Relationship between a GABAA alpha 6 Pro385Ser substitution and benzodiazepine sensitivity", AM J PSYCHIATRY, vol. 156, no. 9, September 1999 (1999-09-01), pages 1447 - 1449, XP000929991 *
KORPI E ET AL: "Benzodiazepine-induced motor impairment linked to point mutation in cerebellar GABAA receptor", NATURE., vol. 361, no. 6410, 28 January 1993 (1993-01-28), pages 356 - 359, XP002145018 *
RADEL M ET AL: "Detection of sequence variants in GABAA receptor subunit genes by DHPLC analysis", ALCOHOLISM CLINICAL AND EXPERIMENTAL RESEARCH, vol. 22, no. 3 Abstr. Suppl., May 1998 (1998-05-01), pages 98A, XP000929992 *

Also Published As

Publication number Publication date
EP1153130B1 (en) 2005-11-23
DE60024231T2 (en) 2006-08-03
AU3495900A (en) 2000-09-04
ATE310820T1 (en) 2005-12-15
EP1153130A2 (en) 2001-11-14
WO2000049151A2 (en) 2000-08-24
ES2254157T3 (en) 2006-06-16
DE60024231D1 (en) 2005-12-29

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